Osteogenesis imperfecta / brittle bone disease (CREB3L1-related) - Cat

Osteogenesis imperfecta in cats

This genetic test examines the CREB3L1 variant c.370_371delTG. The condition is also known as osteogenesis imperfecta, OI, brittle bone disease, fragile bones and teeth. Affected kittens can develop weak and fragile bones, with growth delay, bent limbs, abnormal gait, fractures and complications from skeletal deformation. Teeth may also be fragile.

What is tested?

• The gene: CREB3L1.
• The variant: c.370_371delTG.
• The inheritance pattern: autosomal recessive.
• The scope: cats of all breeds; the described case involved a Japanese domestic cat.

Practical value of this test

The result shows whether a cat is clear, carrier or affected for this CREB3L1 variant. This helps breeders avoid carrier combinations and prevent kittens with severe bone fragility. In a cat with bone problems, the test can give a targeted genetic explanation.